Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Marfan Syndrome
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Marfan Syndrome
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Marfan Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Marfan Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Marfan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Marfan Syndrome

Preferred term

Marfan Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Marfan's Syndrome
  • Marfans Syndrome

Scope note

  • An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

History note

  • 1985; use ARACHNODACTYLY 1963-1984

In other languages

URI

http://www.yso.fi/onto/mesh/D008382

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 5/23/22